MCID: MCH011
MIFTS: 29

Meacham Syndrome

Categories: Genetic diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Meacham Syndrome

MalaCards integrated aliases for Meacham Syndrome:

Name: Meacham Syndrome 57 59 75 29 13 6 40 73
Rhabdomyomatous Dysplasia-Cardiopathy-Genital Anomalies Syndrome 59
Meacham Winn Culler Syndrome 73
Meacham-Winn-Culler Syndrome 59
Meachs 75

Characteristics:

Orphanet epidemiological data:

59
meacham syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

Classifications:



Summaries for Meacham Syndrome

UniProtKB/Swiss-Prot : 75 Meacham syndrome: Rare sporadically occurring multiple malformation syndrome characterized by male pseudohermaphroditism with abnormal internal female genitalia comprising a uterus and double or septate vagina, complex congenital heart defect and diaphragmatic abnormalities.

MalaCards based summary : Meacham Syndrome, also known as rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome, is related to meacham winn culler syndrome and diaphragmatic hernia, congenital. An important gene associated with Meacham Syndrome is WT1 (Wilms Tumor 1). Affiliated tissues include heart, uterus and lung, and related phenotypes are ambiguous genitalia and vaginal atresia

Description from OMIM: 608978

Related Diseases for Meacham Syndrome

Diseases related to Meacham Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 meacham winn culler syndrome 11.0
2 diaphragmatic hernia, congenital 9.9
3 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 9.5 WT1 WT1-AS
4 diffuse mesangial sclerosis 9.5 WT1 WT1-AS
5 wilson-turner x-linked mental retardation syndrome 9.4 WT1 WT1-AS
6 frasier syndrome 9.3 WT1 WT1-AS
7 wilms tumor 1 9.2 WT1 WT1-AS
8 leukemia, acute myeloid 9.0 WT1 WT1-AS

Graphical network of the top 20 diseases related to Meacham Syndrome:



Diseases related to Meacham Syndrome

Symptoms & Phenotypes for Meacham Syndrome

Clinical features from OMIM:

608978

Human phenotypes related to Meacham Syndrome:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ambiguous genitalia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000062
2 vaginal atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000148
3 congenital diaphragmatic hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000776
4 aplasia/hypoplasia of the lungs 59 32 hallmark (90%) Very frequent (99-80%) HP:0006703
5 abnormality of the fallopian tube 59 32 hallmark (90%) Very frequent (99-80%) HP:0011027
6 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
7 hypoplastic left heart 59 32 frequent (33%) Frequent (79-30%) HP:0004383
8 hypoplasia of penis 59 32 frequent (33%) Frequent (79-30%) HP:0008736
9 hydrometrocolpos 59 32 frequent (33%) Frequent (79-30%) HP:0030010
10 pulmonary sequestration 59 32 frequent (33%) Frequent (79-30%) HP:0100632
11 horseshoe kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000085
12 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
13 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
14 tetralogy of fallot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001636
15 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
16 aortic valve stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001650
17 transposition of the great arteries 59 32 occasional (7.5%) Occasional (29-5%) HP:0001669
18 coarctation of aorta 59 32 occasional (7.5%) Occasional (29-5%) HP:0001680
19 situs inversus totalis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001696
20 abnormality of the spleen 59 32 occasional (7.5%) Occasional (29-5%) HP:0001743
21 crossed fused renal ectopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0004736
22 anomalous pulmonary venous return 59 32 occasional (7.5%) Occasional (29-5%) HP:0010772
23 abnormality of the vagina 59 Very frequent (99-80%)
24 abnormal lung lobation 59 Frequent (79-30%)
25 conotruncal defect 59 Occasional (29-5%)

Drugs & Therapeutics for Meacham Syndrome

Search Clinical Trials , NIH Clinical Center for Meacham Syndrome

Genetic Tests for Meacham Syndrome

Genetic tests related to Meacham Syndrome:

# Genetic test Affiliating Genes
1 Meacham Syndrome 29 WT1

Anatomical Context for Meacham Syndrome

MalaCards organs/tissues related to Meacham Syndrome:

41
Heart, Uterus, Lung, Kidney, Spleen

Publications for Meacham Syndrome

Articles related to Meacham Syndrome:

# Title Authors Year
1
WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations. ( 17853480 )
2007
2
Double vagina with sex reversal, congenital diaphragmatic hernia, pulmonary and cardiac malformations--another case of Meacham syndrome. ( 11822701 )
2002

Variations for Meacham Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Meacham Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 WT1 p.Arg366Cys VAR_007745
2 WT1 p.Arg394Trp VAR_007750

ClinVar genetic disease variations for Meacham Syndrome:

6
(show top 50) (show all 180)
# Gene Variation Type Significance SNP ID Assembly Location
1 WT1 NM_024426.4(WT1): c.1384C> T (p.Arg462Trp) single nucleotide variant Pathogenic rs121907900 GRCh37 Chromosome 11, 32413566: 32413566
2 WT1 NM_024426.4(WT1): c.1384C> T (p.Arg462Trp) single nucleotide variant Pathogenic rs121907900 GRCh38 Chromosome 11, 32392020: 32392020
3 WT1 NM_024426.4(WT1): c.1300C> T (p.Arg434Cys) single nucleotide variant Pathogenic rs121907910 GRCh37 Chromosome 11, 32414251: 32414251
4 WT1 NM_024426.4(WT1): c.1300C> T (p.Arg434Cys) single nucleotide variant Pathogenic rs121907910 GRCh38 Chromosome 11, 32392705: 32392705
5 WT1 NM_024426.4(WT1): c.108G> C (p.Pro36=) single nucleotide variant Conflicting interpretations of pathogenicity rs555140661 GRCh37 Chromosome 11, 32456784: 32456784
6 WT1 NM_024426.4(WT1): c.108G> C (p.Pro36=) single nucleotide variant Conflicting interpretations of pathogenicity rs555140661 GRCh38 Chromosome 11, 32435238: 32435238
7 WT1 NM_024426.4(WT1): c.330C> T (p.Pro110=) single nucleotide variant Benign rs1799925 GRCh37 Chromosome 11, 32456562: 32456562
8 WT1 NM_024426.4(WT1): c.330C> T (p.Pro110=) single nucleotide variant Benign rs1799925 GRCh38 Chromosome 11, 32435016: 32435016
9 WT1 NM_024426.4(WT1): c.1107A> G (p.Arg369=) single nucleotide variant Benign rs16754 GRCh37 Chromosome 11, 32417945: 32417945
10 WT1 NM_024426.4(WT1): c.1107A> G (p.Arg369=) single nucleotide variant Benign rs16754 GRCh38 Chromosome 11, 32396399: 32396399
11 WT1 NM_024426.4(WT1): c.1099-9T> C single nucleotide variant Benign/Likely benign rs5030274 GRCh38 Chromosome 11, 32396416: 32396416
12 WT1 NM_024426.4(WT1): c.1099-9T> C single nucleotide variant Benign/Likely benign rs5030274 GRCh37 Chromosome 11, 32417962: 32417962
13 WT1 NM_024426.4(WT1): c.360C> T (p.Gly120=) single nucleotide variant Conflicting interpretations of pathogenicity rs776209354 GRCh38 Chromosome 11, 32434986: 32434986
14 WT1 NM_024426.4(WT1): c.360C> T (p.Gly120=) single nucleotide variant Conflicting interpretations of pathogenicity rs776209354 GRCh37 Chromosome 11, 32456532: 32456532
15 WT1 NM_024426.4(WT1): c.294C> A (p.Gly98=) single nucleotide variant Benign/Likely benign rs547333427 GRCh38 Chromosome 11, 32435052: 32435052
16 WT1 NM_024426.4(WT1): c.294C> A (p.Gly98=) single nucleotide variant Benign/Likely benign rs547333427 GRCh37 Chromosome 11, 32456598: 32456598
17 WT1 NM_024426.4(WT1): c.201G> T (p.Gln67His) single nucleotide variant Benign/Likely benign rs5030135 GRCh38 Chromosome 11, 32435145: 32435145
18 WT1 NM_024426.4(WT1): c.201G> T (p.Gln67His) single nucleotide variant Benign/Likely benign rs5030135 GRCh37 Chromosome 11, 32456691: 32456691
19 WT1 NM_024426.4(WT1): c.166C> A (p.Arg56=) single nucleotide variant Benign/Likely benign rs2234581 GRCh38 Chromosome 11, 32435180: 32435180
20 WT1 NM_024426.4(WT1): c.166C> A (p.Arg56=) single nucleotide variant Benign/Likely benign rs2234581 GRCh37 Chromosome 11, 32456726: 32456726
21 WT1 NM_024426.4(WT1): c.68G> A (p.Gly23Glu) single nucleotide variant Uncertain significance rs751641518 GRCh38 Chromosome 11, 32435278: 32435278
22 WT1 NM_024426.4(WT1): c.68G> A (p.Gly23Glu) single nucleotide variant Uncertain significance rs751641518 GRCh37 Chromosome 11, 32456824: 32456824
23 WT1 NM_024426.4(WT1): c.1059A> G (p.Gln353=) single nucleotide variant Benign/Likely benign rs2234590 GRCh37 Chromosome 11, 32421533: 32421533
24 WT1 NM_024426.4(WT1): c.1059A> G (p.Gln353=) single nucleotide variant Benign/Likely benign rs2234590 GRCh38 Chromosome 11, 32399987: 32399987
25 WT1 NM_024426.4(WT1): c.681C> T (p.Ser227=) single nucleotide variant Benign/Likely benign rs9332974 GRCh38 Chromosome 11, 32428585: 32428585
26 WT1 NM_024426.4(WT1): c.681C> T (p.Ser227=) single nucleotide variant Benign/Likely benign rs9332974 GRCh37 Chromosome 11, 32450131: 32450131
27 WT1 NM_024426.4(WT1): c.594C> T (p.Asn198=) single nucleotide variant Benign/Likely benign rs2234583 GRCh37 Chromosome 11, 32456298: 32456298
28 WT1 NM_024426.4(WT1): c.594C> T (p.Asn198=) single nucleotide variant Benign/Likely benign rs2234583 GRCh38 Chromosome 11, 32434752: 32434752
29 WT1 NM_024426.4(WT1): c.498C> A (p.Gly166=) single nucleotide variant Benign/Likely benign rs536728682 GRCh38 Chromosome 11, 32434848: 32434848
30 WT1 NM_024426.4(WT1): c.498C> A (p.Gly166=) single nucleotide variant Benign/Likely benign rs536728682 GRCh37 Chromosome 11, 32456394: 32456394
31 WT1 NM_024426.4(WT1): c.366C> G (p.Pro122=) single nucleotide variant Conflicting interpretations of pathogenicity rs771681406 GRCh38 Chromosome 11, 32434980: 32434980
32 WT1 NM_024426.4(WT1): c.366C> G (p.Pro122=) single nucleotide variant Conflicting interpretations of pathogenicity rs771681406 GRCh37 Chromosome 11, 32456526: 32456526
33 WT1 NM_024426.4(WT1): c.198G> T (p.Pro66=) single nucleotide variant Benign rs2234582 GRCh37 Chromosome 11, 32456694: 32456694
34 WT1 NM_024426.4(WT1): c.198G> T (p.Pro66=) single nucleotide variant Benign rs2234582 GRCh38 Chromosome 11, 32435148: 32435148
35 WT1 NM_024426.4(WT1): c.*1132A> T single nucleotide variant Likely benign rs5030328 GRCh38 Chromosome 11, 32387926: 32387926
36 WT1 NM_024426.4(WT1): c.*1132A> T single nucleotide variant Likely benign rs5030328 GRCh37 Chromosome 11, 32409472: 32409472
37 WT1 NM_024426.4(WT1): c.*1098C> T single nucleotide variant Likely benign rs5030327 GRCh38 Chromosome 11, 32387960: 32387960
38 WT1 NM_024426.4(WT1): c.*1098C> T single nucleotide variant Likely benign rs5030327 GRCh37 Chromosome 11, 32409506: 32409506
39 WT1 NM_024426.4(WT1): c.*1058G> T single nucleotide variant Uncertain significance rs886048211 GRCh37 Chromosome 11, 32409546: 32409546
40 WT1 NM_024426.4(WT1): c.*1058G> T single nucleotide variant Uncertain significance rs886048211 GRCh38 Chromosome 11, 32388000: 32388000
41 WT1 NM_024426.4(WT1): c.*1053_*1054dupGT duplication Uncertain significance rs878917290 GRCh37 Chromosome 11, 32409550: 32409551
42 WT1 NM_024426.4(WT1): c.*1053_*1054dupGT duplication Uncertain significance rs878917290 GRCh38 Chromosome 11, 32388004: 32388005
43 WT1 NM_024426.4(WT1): c.*897G> C single nucleotide variant Likely benign rs5030324 GRCh37 Chromosome 11, 32409707: 32409707
44 WT1 NM_024426.4(WT1): c.*897G> C single nucleotide variant Likely benign rs5030324 GRCh38 Chromosome 11, 32388161: 32388161
45 WT1 NM_024426.4(WT1): c.*864T> A single nucleotide variant Likely benign rs5030323 GRCh37 Chromosome 11, 32409740: 32409740
46 WT1 NM_024426.4(WT1): c.*864T> A single nucleotide variant Likely benign rs5030323 GRCh38 Chromosome 11, 32388194: 32388194
47 WT1 NM_024426.4(WT1): c.*835A> G single nucleotide variant Likely benign rs5030322 GRCh37 Chromosome 11, 32409769: 32409769
48 WT1 NM_024426.4(WT1): c.*835A> G single nucleotide variant Likely benign rs5030322 GRCh38 Chromosome 11, 32388223: 32388223
49 WT1 NM_024426.4(WT1): c.*685G> T single nucleotide variant Uncertain significance rs886048218 GRCh37 Chromosome 11, 32409919: 32409919
50 WT1 NM_024426.4(WT1): c.*685G> T single nucleotide variant Uncertain significance rs886048218 GRCh38 Chromosome 11, 32388373: 32388373

Expression for Meacham Syndrome

Search GEO for disease gene expression data for Meacham Syndrome.

Pathways for Meacham Syndrome

GO Terms for Meacham Syndrome

Sources for Meacham Syndrome

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